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G |
Nipbl |
NIPBL cohesin loading factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19763162 |
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NCBI chr15:8,319,308...8,494,799
Ensembl chr15:8,320,101...8,473,947
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G |
Prkra |
protein kinase, interferon inducible double stranded RNA dependent activator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25554729 |
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NCBI chr 2:76,436,385...76,478,614
Ensembl chr 2:76,460,242...76,478,359
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G |
Srrm4 |
serine/arginine repetitive matrix 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17613114 |
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NCBI chr 5:116,577,331...116,729,882
Ensembl chr 5:116,577,334...116,729,876
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G |
Ttpa |
tocopherol (alpha) transfer protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10896705 |
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NCBI chr 4:20,007,889...20,030,823
Ensembl chr 4:20,007,938...20,030,785
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G |
Acat2 |
acetyl-Coenzyme A acetyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:13,161,929...13,179,612
Ensembl chr17:13,161,777...13,179,634
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G |
Agpat4 |
1-acylglycerol-3-phosphate O-acyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:12,337,372...12,438,536
Ensembl chr17:12,337,591...12,438,532
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G |
Airn |
antisense Igf2r RNA |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:12,960,198...13,078,771
Ensembl chr17:12,960,198...13,079,299
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G |
Atp2b2 |
ATPase, Ca++ transporting, plasma membrane 2 |
|
ISO |
ClinVar Annotator: match by term: MEGDEL syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574
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G |
Dynlt1b |
dynein light chain Tctex-type 1B |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:6,697,511...6,703,695
Ensembl chr17:6,697,511...6,703,695
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G |
Ezr |
ezrin |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:7,005,530...7,050,179
Ensembl chr17:7,005,440...7,050,183
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G |
Fndc1 |
fibronectin type III domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:7,957,401...8,046,158
Ensembl chr17:7,957,401...8,046,134
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G |
Gtf2h5 |
general transcription factor IIH, polypeptide 5 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:6,130,103...6,135,763
Ensembl chr17:6,130,061...6,136,792
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G |
Igf2r |
insulin-like growth factor 2 receptor |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551
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G |
Map3k4 |
mitogen-activated protein kinase kinase kinase 4 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:12,446,508...12,537,683
Ensembl chr17:12,446,508...12,537,683
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G |
Mas1 |
MAS1 oncogene |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:13,056,981...13,087,037
Ensembl chr17:13,059,966...13,087,030
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G |
Mrpl18 |
mitochondrial ribosomal protein L18 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:13,130,232...13,136,674
Ensembl chr17:13,130,236...13,135,232
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G |
Plg |
plasminogen |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:12,597,496...12,638,271
Ensembl chr17:12,597,495...12,638,272
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G |
Pnldc1 |
poly(A)-specific ribonuclease (PARN)-like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:13,107,610...13,129,489
Ensembl chr17:13,107,616...13,129,117
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G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
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G |
Rsph3a |
radial spoke 3A homolog (Chlamydomonas) |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:8,164,446...8,198,388
Ensembl chr17:8,164,446...8,198,656
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G |
Serac1 |
serine active site containing 1 |
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ISO IAGP |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome | ClinVar Annotator: match by term: SERAC1-related neurological disorder OMIM:614739 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:26863999 PMID:27604308 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:29205472 PMID:29686941 PMID:31251474 PMID:32005694 PMID:32313153 PMID:33431980 PMID:33613893 PMID:37712079 More...
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NCBI chr17:6,090,846...6,130,064
Ensembl chr17:6,092,471...6,130,016
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G |
Slc22a1 |
solute carrier family 22 (organic cation transporter), member 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:12,867,761...12,894,725
Ensembl chr17:12,867,756...12,894,716
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G |
Slc22a2 |
solute carrier family 22 (organic cation transporter), member 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:12,803,076...12,847,376
Ensembl chr17:12,803,019...12,847,375
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G |
Slc22a3 |
solute carrier family 22 (organic cation transporter), member 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:12,638,859...12,726,591
Ensembl chr17:12,637,847...12,726,591
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G |
Sod2 |
superoxide dismutase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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G |
Sytl3 |
synaptotagmin-like 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:6,925,633...7,005,449
Ensembl chr17:6,926,492...7,005,443
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G |
Tagap |
T cell activation Rho GTPase activating protein |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:8,144,832...8,153,729
Ensembl chr17:8,144,832...8,153,729
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G |
Tcp1 |
t-complex protein 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:13,135,216...13,143,954
Ensembl chr17:13,134,588...13,143,954
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G |
Tmem181a |
transmembrane protein 181A |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:6,307,001...6,358,589
Ensembl chr17:6,307,135...6,358,589
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G |
Tulp4 |
TUB like protein 4 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:6,156,528...6,290,912
Ensembl chr17:6,156,712...6,301,403
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G |
Wtap |
WT1 associating protein |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr17:13,185,686...13,211,430
Ensembl chr17:13,185,683...13,213,056
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G |
Tbx22 |
T-box 22 |
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ISO |
ClinVar Annotator: match by term: Abruzzo-Erickson syndrome | ClinVar Annotator: match by term: TBX22-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:839509 PMID:14729838 PMID:22784330 PMID:25741868 PMID:28492532 |
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NCBI chr X:106,711,570...106,732,586
Ensembl chr X:106,711,570...106,732,584
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G |
mt-Co1 |
cytochrome c oxidase I, mitochondrial |
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ISO |
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY |
ClinVar |
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:10577941 PMID:16152638 PMID:17659260 PMID:20301595 PMID:25741868 PMID:32906214 More...
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NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872
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G |
mt-Nd1 |
NADH dehydrogenase 1, mitochondrial |
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ISO |
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY |
ClinVar |
PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 PMID:8817331 PMID:9039999 PMID:9111378 PMID:9164619 PMID:9315872 PMID:9391883 PMID:9490575 PMID:9779807 PMID:9831149 PMID:9887373 PMID:9915970 PMID:9950117 PMID:10521300 PMID:10577941 PMID:10633132 PMID:10661905 PMID:10788333 PMID:10915767 PMID:11174059 PMID:11230176 PMID:11388757 PMID:11857751 PMID:11870684 PMID:12031626 PMID:12054632 PMID:12127547 PMID:12372057 PMID:12624722 PMID:12655418 PMID:12920080 PMID:12939650 PMID:12955586 PMID:14699607 PMID:14755216 PMID:15708009 PMID:15841390 PMID:15917167 PMID:16152638 PMID:16168391 PMID:16375862 PMID:16458854 PMID:16631122 PMID:16826519 PMID:16935512 PMID:16955413 PMID:17341440 PMID:17637808 PMID:17698299 PMID:17723226 PMID:17999439 PMID:18386806 PMID:18790089 PMID:18820594 PMID:18830133 PMID:18983818 PMID:19196684 PMID:19196685 PMID:19376484 PMID:19475720 PMID:19687236 PMID:19818876 PMID:19835846 PMID:20100600 PMID:20111055 PMID:20172897 PMID:20301595 PMID:20353758 PMID:20416460 PMID:21047563 PMID:21162657 PMID:21205314 PMID:21329993 PMID:21495045 PMID:21504270 PMID:21725156 PMID:21777984 PMID:21811586 PMID:21828074 PMID:22223843 PMID:22475488 PMID:22879993 PMID:22992668 PMID:23256547 PMID:23525847 PMID:24033266 PMID:24252789 PMID:24651602 PMID:24703164 PMID:25155176 PMID:25515069 PMID:25741868 PMID:25744662 PMID:26497601 PMID:26822237 PMID:27427311 PMID:28049726 PMID:28520359 PMID:29805548 PMID:32906214 More...
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NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
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G |
mt-Rnr1 |
12S rRNA, mitochondrial |
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ISO |
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY |
ClinVar |
PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 PMID:8817331 PMID:9039999 PMID:9111378 PMID:9164619 PMID:9315872 PMID:9391883 PMID:9490575 PMID:9779807 PMID:9831149 PMID:9887373 PMID:9915970 PMID:9950117 PMID:10521300 PMID:10577941 PMID:10633132 PMID:10661905 PMID:10788333 PMID:10915767 PMID:11079536 PMID:11174059 PMID:11230176 PMID:11313749 PMID:11388757 PMID:11857751 PMID:11870684 PMID:12031626 PMID:12054632 PMID:12127547 PMID:12372057 PMID:12624722 PMID:12655418 PMID:12920080 PMID:12939650 PMID:12955586 PMID:14681830 PMID:14699607 PMID:14755216 PMID:15466285 PMID:15555598 PMID:15637703 PMID:15708009 PMID:15722487 PMID:15841390 PMID:15917167 PMID:16152638 PMID:16168391 PMID:16375862 PMID:16380089 PMID:16458854 PMID:16528519 PMID:16631122 PMID:16650816 PMID:16782057 PMID:16826519 PMID:16875663 PMID:16935512 PMID:16955413 PMID:17085680 PMID:17341440 PMID:17434445 PMID:17637808 PMID:17698030 PMID:17698299 PMID:17723226 PMID:17999439 PMID:18261986 PMID:18386806 PMID:18636170 PMID:18790089 PMID:18820594 PMID:18830133 PMID:18983818 PMID:19196684 PMID:19196685 PMID:19376484 PMID:19475720 PMID:19682603 PMID:19687236 PMID:19818876 PMID:19835846 PMID:20100600 PMID:20111055 PMID:20172897 PMID:20301595 PMID:20353758 PMID:20416460 PMID:21047563 PMID:21162657 PMID:21205314 PMID:21329993 PMID:21495045 PMID:21504270 PMID:21725156 PMID:21777984 PMID:21811586 PMID:21828074 PMID:22223843 PMID:22475488 PMID:22735573 PMID:22879993 PMID:22992668 PMID:23256547 PMID:23525847 PMID:24033266 PMID:24252789 PMID:24651602 PMID:24703164 PMID:25155176 PMID:25474306 PMID:25515069 PMID:25741868 PMID:25744662 PMID:26497601 PMID:26822237 PMID:27397648 PMID:27427311 PMID:27654872 PMID:28049726 PMID:28520359 PMID:29805548 PMID:29876232 PMID:30693673 PMID:32906214 More...
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NCBI chr MT:70...1,024
Ensembl chr MT:70...1,024
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G |
mt-Ts1 |
tRNA serine 1, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY |
CTD ClinVar |
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:10577941 PMID:14681830 PMID:15722487 PMID:16152638 PMID:16380089 PMID:17085680 PMID:17434445 PMID:17659260 PMID:17698030 PMID:17698299 PMID:18830133 PMID:19682603 PMID:20100600 PMID:20301595 PMID:20416460 PMID:21047563 PMID:21205314 PMID:22992668 PMID:25474306 PMID:25515069 PMID:25741868 PMID:27397648 PMID:27654872 PMID:28520359 PMID:29876232 PMID:30693673 PMID:32906214 More...
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NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
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G |
Trmu |
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase |
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ISO |
ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 PMID:21153446 PMID:21169334 PMID:21931168 PMID:23625533 PMID:25665837 PMID:25741868 PMID:26633542 PMID:28049726 PMID:28252636 PMID:28492532 PMID:28973083 PMID:30369941 PMID:30740308 PMID:31160058 PMID:32445240 PMID:33365252 PMID:33485800 PMID:34052969 PMID:36305855 PMID:38113276 More...
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NCBI chr15:85,763,505...85,781,595
Ensembl chr15:85,763,513...85,781,595
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G |
Pitx2 |
paired-like homeodomain transcription factor 2 |
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ISO |
DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) |
RGD |
PMID:17701896 |
RGD:12910562 |
NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1664177 PMID:3278127 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 PMID:17701896 PMID:17701900 PMID:19161981 PMID:20301731 PMID:22246954 PMID:24033266 PMID:24528855 PMID:25741868 PMID:26089585 PMID:28492532 PMID:28967191 PMID:31906484 PMID:32781272 More...
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NCBI chr X:139,357,352...139,376,889
Ensembl chr X:139,357,362...139,376,889
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G |
mt-Tv |
tRNA valine, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Ataxia, progressive seizures, mental deterioration, and hearing loss |
ClinVar |
PMID:9450773 PMID:12056939 PMID:20064630 PMID:31965079 |
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NCBI chr MT:1,025...1,093
Ensembl chr MT:1,025...1,093
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G |
Hoxa1 |
homeobox A1 |
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ISO IAGP |
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome OMIM:601536 CTD Direct Evidence: marker/mechanism DNA:mutations:cds:185delG,175-176insG,76C>T(human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532 PMID:18412118 More...
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RGD:11553818 |
NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297
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G |
Hoxa2 |
homeobox A2 |
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ISO |
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:52,139,389...52,141,808
Ensembl chr 6:52,139,397...52,141,811
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G |
Aifm1 |
apoptosis-inducing factor, mitochondrion-associated 1 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr X:47,563,821...47,602,440
Ensembl chr X:47,563,821...47,602,440
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G |
Cacna1a |
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
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G |
Cdh2 |
cadherin 2 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:28492532 |
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NCBI chr18:16,721,934...16,942,303
Ensembl chr18:16,721,934...16,942,303
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G |
Fdxr |
ferredoxin reductase |
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ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony |
ClinVar |
PMID:25741868 PMID:28965846 PMID:29040572 |
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NCBI chr11:115,158,850...115,167,925
Ensembl chr11:115,158,850...115,167,876
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G |
Kif5a |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217
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G |
Mfn2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
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G |
mt-Rnr1 |
12S rRNA, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony |
ClinVar |
PMID:11079536 PMID:11313749 PMID:15466285 PMID:15555598 PMID:15637703 PMID:15841390 PMID:16528519 PMID:16875663 PMID:18636170 PMID:18830133 PMID:18983818 PMID:20100600 PMID:21205314 PMID:21495045 PMID:22735573 PMID:22992668 PMID:24033266 PMID:25515069 PMID:25741868 PMID:27654872 More...
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NCBI chr MT:70...1,024
Ensembl chr MT:70...1,024
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G |
Myo7a |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731
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G |
Nefl |
neurofilament, light polypeptide |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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G |
Notch3 |
notch 3 |
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ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826
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G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702
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G |
Otof |
otoferlin |
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ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:18381613 PMID:19250381 PMID:22575033 PMID:25741868 PMID:26818607 PMID:28492532 More...
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NCBI chr 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276
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G |
Rab33a |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr X:47,602,540...47,619,112
Ensembl chr X:47,608,162...47,619,109
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G |
Slc52a3 |
solute carrier protein family 52, member 3 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32579787 |
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NCBI chr 2:151,838,431...151,851,178
Ensembl chr 2:151,838,431...151,851,178
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G |
Timm8a1 |
translocase of inner mitochondrial membrane 8A1 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:30634948 |
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NCBI chr X:133,438,005...133,442,419
Ensembl chr X:133,438,005...133,442,614
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G |
Trp63 |
transformation related protein 63 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:30818899 |
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NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201
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G |
Wfs1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549
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G |
Hyal3 |
hyaluronoglucosaminidase 3 |
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ISO |
ClinVar Annotator: match by term: Auroneurodental syndrome |
ClinVar |
PMID:34805998 |
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NCBI chr 9:107,458,495...107,464,558
Ensembl chr 9:107,458,017...107,464,558
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G |
Naa80 |
N(alpha)-acetyltransferase 80, NatH catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Auroneurodental syndrome |
ClinVar |
PMID:34805998 |
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NCBI chr 9:107,457,868...107,461,247
Ensembl chr 9:107,456,086...107,461,249
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G |
Diaph3 |
diaphanous related formin 3 |
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ISO IAGP |
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT | ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition OMIM:609129 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 PMID:26467025 PMID:27658576 PMID:28492532 More...
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NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671
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G |
Atp11a |
ATPase, class VI, type 11A |
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ISO |
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OMIM |
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NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728
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G |
Tmem43 |
transmembrane protein 43 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 |
OMIM ClinVar |
PMID:18230648 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 PMID:23161701 PMID:23178689 PMID:23299917 PMID:23555315 PMID:23812740 PMID:23861362 PMID:24033266 PMID:25333069 PMID:25343256 PMID:25351510 PMID:25676813 PMID:25741868 PMID:25820315 PMID:26467025 PMID:26743238 PMID:26840987 PMID:27153395 PMID:27301361 PMID:28301460 PMID:28471438 PMID:28492532 PMID:29311375 PMID:30847666 PMID:31333075 PMID:31568572 PMID:32880476 PMID:33087929 PMID:34050020 PMID:35063694 PMID:37477868 More...
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NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445
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G |
Dnmt1 |
DNA methyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy |
OMIM CTD ClinVar |
PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 PMID:21532572 PMID:22328086 PMID:23365052 PMID:25326637 PMID:25678562 PMID:25741868 PMID:28334952 PMID:28492532 PMID:30165906 PMID:31984424 More...
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NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184
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G |
Atp6v1b2 |
ATPase, H+ transporting, lysosomal V1 subunit B2 |
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ISO IAGP |
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant CTD Direct Evidence: marker/mechanism OMIM:124480 |
OMIM ClinVar CTD MouseDO |
PMID:24913193 PMID:25741868 PMID:28396750 PMID:30311386 PMID:31581539 PMID:31655144 More...
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NCBI chr 8:69,541,388...69,566,370
Ensembl chr 8:69,541,298...69,566,363
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G |
Dspp |
dentin sialophosphoprotein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 DNA:missense mutations:cds:p.P17T, p.V18P (human) |
OMIM CTD ClinVar RGD |
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:11175790 More...
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RGD:12910984 |
NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993
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G |
Myh14 |
myosin, heavy polypeptide 14 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 4 |
ClinVar |
PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 PMID:24033266 PMID:24082139 PMID:25741868 PMID:26284702 PMID:26346818 PMID:26467025 PMID:27068579 PMID:27393652 PMID:27610647 PMID:28166811 PMID:28221712 PMID:28492532 PMID:30311386 PMID:30828794 PMID:31231018 PMID:31393079 PMID:34681017 More...
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NCBI chr 7:44,255,227...44,320,296
Ensembl chr 7:44,255,227...44,320,267
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G |
Gjb2 |
gap junction protein, beta 2 |
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IMP ISO IAGP |
p.S17F(mouse) ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant CTD Direct Evidence: marker/mechanism OMIM:148210 DNA:mutation:cds:p.D50N (human) p.G45E(mouse) DNA:mutation:cds:p.N14K(human) DNA:mutations:cds:p.G11E,p.D50N(human) |
ClinVar CTD MouseDO OMIM RGD |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10704187 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12112666 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12457340 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12752120 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14676473 PMID:14681040 PMID:14691997 PMID:14694360 PMID:14700667 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16575343 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16931589 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17255958 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17567887 PMID:17576681 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18167282 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19390476 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19744334 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20101161 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20412116 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20629838 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21040787 PMID:21094084 PMID:21094651 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21388256 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21912263 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22208444 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23266159 PMID:23328711 PMID:23447037 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23812555 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:23967202 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24078562 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24224790 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24372583 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24941117 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25575739 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25692760 PMID:25708704 PMID:25741868 PMID:25752103 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26397989 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27067584 PMID:27087580 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27466889 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28263784 PMID:28271504 PMID:28383030 PMID:28405014 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:28900455 PMID:29062245 PMID:29086887 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29542069 PMID:29605365 PMID:29625052 PMID:29665173 PMID:29754767 PMID:29773520 PMID:29871260 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30068397 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30168495 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30733538 PMID:30828346 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31053783 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31379920 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32012697 PMID:32090102 PMID:32120898 PMID:32258544 PMID:32708339 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34008892 PMID:34062854 PMID:34161886 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34599368 PMID:34652575 PMID:35016843 PMID:35336849 PMID:35396755 PMID:35864128 PMID:36048236 PMID:36190904 PMID:36474027 PMID:36579563 PMID:36597107 PMID:36672810 PMID:36788145 PMID:37239361 PMID:38730444 PMID:38831582 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 PMID:20926451 PMID:23924173 PMID:22031297 PMID:18950394 PMID:20307501 More...
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RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 |
NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
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G |
Atoh1 |
atonal bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss |
ClinVar |
PMID:25741868 PMID:33111345 |
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NCBI chr 6:64,706,109...64,708,229
Ensembl chr 6:64,706,109...64,708,229
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G |
Atp2b2 |
ATPase, Ca++ transporting, plasma membrane 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
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NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574
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G |
Diablo |
diablo, IAP-binding mitochondrial protein |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr 5:123,649,393...123,664,825
Ensembl chr 5:123,647,828...123,662,239
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G |
Greb1l |
growth regulation by estrogen in breast cancer-like |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 PMID:32585897 |
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NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940
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G |
Mitf |
melanogenesis associated transcription factor |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310
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G |
Myo6 |
myosin VI |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011
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G |
P2rx2 |
purinergic receptor P2X, ligand-gated ion channel, 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:30311386 |
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NCBI chr 5:110,487,678...110,491,186
Ensembl chr 5:110,487,678...110,491,078
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G |
Pde1c |
phosphodiesterase 1C |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:29860631 |
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NCBI chr 6:56,046,783...56,629,590
Ensembl chr 6:56,046,789...56,629,472
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G |
Pls1 |
plastin 1 (I-isoform) |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:30872814 PMID:31397523 |
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NCBI chr 9:95,634,695...95,727,359
Ensembl chr 9:95,634,695...95,727,364
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G |
Rest |
RE1-silencing transcription factor |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 PMID:34828371 |
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NCBI chr 5:77,413,273...77,434,279
Ensembl chr 5:77,413,338...77,434,279
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G |
Six1 |
sine oculis-related homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661
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G |
Wfs1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:11295831 PMID:12955714 PMID:16648378 PMID:17492394 PMID:17603484 PMID:18060660 PMID:18544103 PMID:19877185 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22238590 PMID:24033266 PMID:24890733 PMID:25250959 PMID:25741868 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:27045389 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29447883 PMID:29529044 PMID:30311386 PMID:30577886 PMID:32567228 PMID:32645618 PMID:33098801 PMID:33841295 PMID:33879153 PMID:34387732 PMID:34416374 PMID:34440452 PMID:34573359 PMID:34758253 PMID:34997062 PMID:35810424 PMID:35872528 PMID:35982127 PMID:36284460 PMID:36330437 PMID:36933359 PMID:36958120 PMID:37041640 More...
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NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549
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G |
Diaph1 |
diaphanous related formin 1 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: DIAPH1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 PMID:23804846 PMID:24033266 PMID:24781755 PMID:25342930 PMID:25558065 PMID:25640679 PMID:25741868 PMID:26011067 PMID:26463574 PMID:26467025 PMID:26912466 PMID:27707755 PMID:27808407 PMID:27911912 PMID:28492532 PMID:28815995 PMID:28983057 PMID:29758562 PMID:30311386 PMID:30896630 PMID:32678080 PMID:33176815 PMID:33229591 PMID:33662367 PMID:34125151 PMID:34279089 PMID:35307828 PMID:36118902 More...
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NCBI chr18:37,976,654...38,068,573
Ensembl chr18:37,976,654...38,068,529
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G |
Ecscr |
endothelial cell surface expressed chemotaxis and apoptosis regulator |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA |
ClinVar |
PMID:28492532 |
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NCBI chr18:35,846,139...35,855,460
Ensembl chr18:35,846,139...35,855,409
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G |
Eif4ebp3 |
eukaryotic translation initiation factor 4E binding protein 3 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA |
ClinVar |
PMID:28492532 |
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NCBI chr18:36,797,113...36,799,377
Ensembl chr18:36,797,113...36,798,970
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G |
Eya4 |
EYA transcriptional coactivator and phosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 PMID:17568404 PMID:17576681 PMID:23861362 PMID:23990876 PMID:24033266 PMID:25681523 PMID:25741868 PMID:25781927 PMID:25963406 PMID:26084686 PMID:27068579 PMID:28492532 PMID:28798025 PMID:28831623 PMID:29030401 PMID:30165862 PMID:30311386 PMID:30828794 PMID:32107406 PMID:32277154 PMID:33745059 PMID:35802133 PMID:36633841 More...
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NCBI chr10:22,978,861...23,226,785
Ensembl chr10:22,978,862...23,226,684
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G |
Myo7a |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 11 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 PMID:9259201 PMID:9354784 PMID:9382091 PMID:9536098 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10612833 PMID:10930322 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16283880 PMID:16400615 PMID:16449806 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19375528 PMID:19461658 PMID:19683999 PMID:19888295 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21150918 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21738395 PMID:21873662 PMID:22135276 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22903915 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23383098 PMID:23451214 PMID:23451239 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:25080338 PMID:25133751 PMID:25211151 PMID:25262649 PMID:25333064 PMID:25342930 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25587757 PMID:25741868 PMID:25788563 PMID:25798947 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26791358 PMID:26864046 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27884173 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28041643 PMID:28451532 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28731162 PMID:28802369 PMID:28944237 PMID:29048421 PMID:29099798 PMID:29142287 PMID:29178603 PMID:29196752 PMID:29276601 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30029497 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30390570 PMID:30459346 PMID:30718709 PMID:30733538 PMID:30826590 PMID:30828346 PMID:30872718 PMID:30881389 PMID:31035849 PMID:31152317 PMID:31266775 PMID:31456290 PMID:31479088 PMID:31541171 PMID:31589614 PMID:31816670 PMID:31847883 PMID:31850270 PMID:31963381 PMID:31964843 PMID:31980526 PMID:32097363 PMID:32467589 PMID:32483926 PMID:32531858 PMID:32581362 PMID:32681043 PMID:32747562 PMID:32795431 PMID:32853555 PMID:32860223 PMID:32981126 PMID:33089500 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33269433 PMID:33297549 PMID:33363762 PMID:33576163 PMID:33576794 PMID:33623043 PMID:33710140 PMID:33724713 PMID:33976695 PMID:34148116 PMID:34194829 PMID:34416374 PMID:34426522 PMID:34652575 PMID:34837038 PMID:34948090 PMID:35085295 PMID:35453549 PMID:35640668 PMID:35802133 PMID:35982127 PMID:36011334 PMID:36147510 PMID:36164746 PMID:36460718 PMID:36484953 PMID:36555390 PMID:36633841 PMID:36672771 PMID:36909829 PMID:37466950 PMID:37727480 PMID:37811145 PMID:38189974 More...
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NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731
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G |
Tecta |
tectorin alpha |
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ISO IAGP |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 CTD Direct Evidence: marker/mechanism OMIM:601543 |
OMIM ClinVar CTD MouseDO |
PMID:9536098 PMID:9590290 PMID:9949200 PMID:10196713 PMID:10987647 PMID:11087000 PMID:11333869 PMID:12021773 PMID:12162770 PMID:12746400 PMID:16199547 PMID:16718611 PMID:17431902 PMID:17576681 PMID:17661817 PMID:18575463 PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:22980975 PMID:23967202 PMID:24033266 PMID:24130743 PMID:24586623 PMID:25008054 PMID:25262649 PMID:25413827 PMID:25741868 PMID:26467025 PMID:27068579 PMID:27627659 PMID:27848944 PMID:28000701 PMID:28053790 PMID:28492532 PMID:28946916 PMID:29196752 PMID:29293505 PMID:30311386 PMID:30935366 PMID:31163360 PMID:31554319 PMID:32747562 PMID:32853555 PMID:33111345 PMID:33297549 PMID:34008892 PMID:34325055 PMID:34795337 More...
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NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225
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G |
Col11a2 |
collagen, type XI, alpha 2 |
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ISO IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 13 CTD Direct Evidence: marker/mechanism OMIM:601868 |
OMIM ClinVar CTD MouseDO |
PMID:9536098 PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:16033917 PMID:16199547 PMID:17576681 PMID:21204229 PMID:22246659 PMID:23967202 PMID:24033266 PMID:25633957 PMID:25741868 PMID:26445815 PMID:26969326 PMID:28492532 PMID:29456477 PMID:29907799 PMID:30311386 PMID:31299979 PMID:31680349 PMID:33105617 PMID:33111345 PMID:35741851 PMID:35802133 PMID:36633841 More...
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NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659
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G |
Pou4f3 |
POU domain, class 4, transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition |
OMIM ClinVar |
PMID:9506947 PMID:12522684 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 PMID:24033266 PMID:24260153 PMID:25741868 PMID:26467025 PMID:27535032 PMID:28492532 PMID:29850532 PMID:30311386 PMID:32684921 PMID:32747562 PMID:34250087 PMID:37537203 More...
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NCBI chr18:42,527,662...42,529,158
Ensembl chr18:42,527,604...42,530,314
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G |
Strc |
stereocilin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 16 |
ClinVar |
PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 |
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NCBI chr 2:121,193,729...121,211,851
Ensembl chr 2:121,194,209...121,217,649
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G |
Myh9 |
myosin, heavy polypeptide 9, non-muscle |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 PMID:10973259 PMID:10973260 PMID:11023810 PMID:11159552 PMID:11590545 PMID:11752022 PMID:11776386 PMID:11935325 PMID:12533692 PMID:12621333 PMID:12649151 PMID:12792306 PMID:15339844 PMID:16098078 PMID:16162639 PMID:16818291 PMID:16969870 PMID:17146397 PMID:17655694 PMID:18059020 PMID:18330899 PMID:18676005 PMID:19408192 PMID:19557653 PMID:19572073 PMID:20002731 PMID:20221761 PMID:20301740 PMID:20416459 PMID:20588287 PMID:21542825 PMID:21908426 PMID:22123909 PMID:22477015 PMID:22627578 PMID:22995991 PMID:23144074 PMID:23207509 PMID:23349334 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25752595 PMID:25752999 PMID:25949529 PMID:26056797 PMID:26226608 PMID:26346198 PMID:26387855 PMID:26467025 PMID:26942920 PMID:26969326 PMID:27068579 PMID:28059092 PMID:28492532 PMID:29090586 PMID:29451856 PMID:29532554 PMID:29782633 PMID:29907799 PMID:30245029 PMID:30311386 PMID:30471777 PMID:30556268 PMID:30712057 PMID:30720677 PMID:30916803 PMID:31064749 PMID:32100410 PMID:32315395 PMID:32545517 PMID:32604935 PMID:32757236 PMID:33532864 PMID:33710140 PMID:33855781 PMID:34310475 PMID:34355501 PMID:35584211 PMID:36100708 PMID:36646731 PMID:38650331 More...
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NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
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G |
Actg1 |
actin, gamma, cytoplasmic 1 |
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ISO |
ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 PMID:16773128 PMID:17576681 PMID:18414213 PMID:19419963 PMID:19477959 PMID:19548389 PMID:20301607 PMID:22200607 PMID:22366783 PMID:23506231 PMID:24033266 PMID:25052316 PMID:25741868 PMID:25792668 PMID:26188271 PMID:26467025 PMID:27240540 PMID:28000701 PMID:28492532 PMID:29196752 PMID:29357087 PMID:29620237 PMID:29671837 PMID:29907799 PMID:29986705 PMID:30008475 PMID:30311386 PMID:30622556 PMID:31116477 PMID:31231230 PMID:32028042 PMID:32341388 PMID:33584783 PMID:33604570 PMID:34448047 PMID:35802133 PMID:36633841 More...
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NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368
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G |
Ripor2 |
RHO family interacting cell polarization regulator 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal dominant 21 |
OMIM CTD ClinVar |
PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 |
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NCBI chr13:24,685,513...24,917,789
Ensembl chr13:24,685,508...24,917,799
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G |
Bin1 |
bridging integrator 1 |
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ISO |
ClinVar Annotator: match by term: DFNA 22 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr18:32,509,671...32,568,793
Ensembl chr18:32,510,283...32,568,790
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G |
Myo6 |
myosin VI |
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ISO IAGP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 OMIM:606346 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 PMID:16199547 PMID:17576681 PMID:18212818 PMID:18348273 PMID:21078986 PMID:23767834 PMID:24033266 PMID:24123366 PMID:25080041 PMID:25741868 PMID:25741877 PMID:25999546 PMID:26445815 PMID:26467025 PMID:26969326 PMID:26971995 PMID:28492532 PMID:28501645 PMID:29224747 PMID:30311386 PMID:30582396 PMID:31589614 PMID:32143290 PMID:32747562 PMID:33279834 PMID:33297549 PMID:33724713 PMID:35802133 PMID:35982127 PMID:36633841 PMID:36788145 More...
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NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011
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G |
Six1 |
sine oculis-related homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal dominant 23 |
OMIM CTD ClinVar |
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 PMID:19497856 PMID:21254961 PMID:21280147 PMID:21700001 PMID:23435380 PMID:24033266 PMID:25326635 PMID:25741868 PMID:25788563 PMID:28492532 PMID:30311386 PMID:35802133 PMID:36633841 More...
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NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661
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G |
Slc17a8 |
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 |
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ISO IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal dominant 25 | ClinVar Annotator: match by term: SLC17A8-related condition OMIM:605583 |
OMIM CTD ClinVar MouseDO |
PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26797701 PMID:28492532 PMID:33229591 More...
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NCBI chr10:89,409,882...89,457,111
Ensembl chr10:89,409,882...89,457,115
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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IAGP |
OMIM:605583 |
MouseDO |
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NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482
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G |
Rest |
RE1-silencing transcription factor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 27 | ClinVar Annotator: match by term: Deafness, autosomal dominant 27 |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 |
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NCBI chr 5:77,413,273...77,434,279
Ensembl chr 5:77,413,338...77,434,279
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G |
Grhl2 |
grainyhead like transcription factor 2 |
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ISO |
DNA:nonsense mutation:exon: ClinVar Annotator: match by term: Deafness, autosomal dominant 28 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:12393799 More...
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RGD:1599382 |
NCBI chr15:37,233,065...37,363,813
Ensembl chr15:37,233,280...37,363,813
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G |
Kcnq4 |
potassium voltage-gated channel, subfamily Q, member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 PMID:10571947 PMID:10925378 PMID:11450843 PMID:11915881 PMID:12112653 PMID:15699719 PMID:16596322 PMID:17576681 PMID:18030493 PMID:18786918 PMID:18797286 PMID:18941426 PMID:20301388 PMID:20832469 PMID:20966080 PMID:21242547 PMID:21951272 PMID:22384008 PMID:22420747 PMID:23451214 PMID:23717403 PMID:23750663 PMID:24033266 PMID:25116015 PMID:25741868 PMID:26036578 PMID:26467025 PMID:26515070 PMID:27068579 PMID:28492532 PMID:30311386 PMID:30413759 PMID:31028865 PMID:31995783 PMID:32382995 PMID:34622280 More...
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NCBI chr 4:120,553,331...120,605,809
Ensembl chr 4:120,553,335...120,605,809
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G |
Gjb3 |
gap junction protein, beta 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal dominant 2b |
CTD ClinVar OMIM |
PMID:9843210 PMID:12019212 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 PMID:24033266 PMID:25214170 PMID:25741868 PMID:28492532 PMID:29106878 PMID:31564438 PMID:32645618 More...
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NCBI chr 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637
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G |
Myo3a |
myosin IIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 30 |
ClinVar |
PMID:32519820 |
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NCBI chr 2:22,232,360...22,508,693
Ensembl chr 2:22,232,316...22,508,264
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G |
Atp11a |
ATPase, class VI, type 11A |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 33 |
ClinVar |
PMID:25741868 PMID:30311386 PMID:35278131 |
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NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728
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G |
Col11a2 |
collagen, type XI, alpha 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 33 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659
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G |
Nlrp3 |
NLR family, pyrin domain containing 3 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION | ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation |
OMIM ClinVar |
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 PMID:15593220 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:21058222 PMID:21109514 PMID:21810457 PMID:22146561 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26386126 PMID:26467025 PMID:26531310 PMID:27191192 PMID:27612399 PMID:27994174 PMID:28421071 PMID:28492532 PMID:28692792 PMID:28847925 PMID:29159471 PMID:29922587 PMID:30311386 PMID:30407166 PMID:30808881 PMID:32082075 PMID:33329557 More...
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NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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G |
Tmc1 |
transmembrane channel-like gene family 1 |
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ISO IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition CTD Direct Evidence: marker/mechanism OMIM:606705 |
OMIM ClinVar CTD MouseDO |
PMID:9536098 PMID:11850618 PMID:15354000 PMID:15605408 PMID:16134132 PMID:16199547 PMID:16287143 PMID:17250663 PMID:17576681 PMID:17877751 PMID:18259073 PMID:18414213 PMID:18616530 PMID:19180119 PMID:19187973 PMID:20373850 PMID:21250555 PMID:21252500 PMID:21917145 PMID:22105175 PMID:22607986 PMID:23208854 PMID:23767834 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24827932 PMID:24933710 PMID:24949729 PMID:25074487 PMID:25388789 PMID:25423259 PMID:25491636 PMID:25525159 PMID:25741868 PMID:26011067 PMID:26467025 PMID:26561413 PMID:26879195 PMID:26969326 PMID:27068579 PMID:28492532 PMID:28501645 PMID:29196752 PMID:29533536 PMID:29654653 PMID:30303587 PMID:30311386 PMID:30896630 PMID:31028865 PMID:31541171 PMID:31814694 PMID:31854501 PMID:32747562 PMID:32860223 PMID:33095980 PMID:33111345 PMID:33168709 PMID:33524517 PMID:33724713 PMID:34416374 PMID:34523024 PMID:35407445 PMID:36597107 PMID:38066485 More...
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NCBI chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566
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G |
Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 |
ClinVar |
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NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238
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G |
Col11a1 |
collagen, type XI, alpha 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 | ClinVar Annotator: match by term: Deafness, autosomal dominant 37 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 PMID:21035103 PMID:21668896 PMID:23922384 PMID:25240749 PMID:25741868 PMID:26377240 PMID:28315471 PMID:28492532 PMID:29620724 PMID:30245514 PMID:30311386 PMID:32381727 PMID:32427345 PMID:32578940 PMID:32756486 PMID:33169910 PMID:33348901 PMID:33605226 PMID:33951325 PMID:34515852 More...
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NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367
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G |
Gjb2 |
gap junction protein, beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3a CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10704187 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11179004 PMID:11216656 PMID:11298683 PMID:11313751 PMID:11313763 PMID:11354642 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12081719 PMID:12111646 PMID:12112666 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12372058 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12457340 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12668604 PMID:12673800 PMID:12684873 PMID:12700168 PMID:12746422 PMID:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14676473 PMID:14681040 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14978038 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15757815 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16575343 PMID:16645853 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16931589 PMID:16945493 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17255958 PMID:17309986 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17462767 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17567887 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17671735 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18167282 PMID:18196482 PMID:18294064 PMID:18316665 PMID:18324688 PMID:18353197 PMID:18414213 PMID:18451998 PMID:18472371 PMID:18560174 PMID:18570691 PMID:18607988 PMID:18668259 PMID:18684989 PMID:18688874 PMID:18758381 PMID:18776652 PMID:18793701 PMID:18804553 PMID:18924167 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19101659 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19274344 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19390476 PMID:19465004 PMID:19567088 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19718752 PMID:19719946 PMID:19723508 PMID:19744334 PMID:19775242 PMID:19814620 PMID:19877196 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20031451 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20412116 PMID:20441744 PMID:20442751 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20854437 PMID:20863150 PMID:20890442 PMID:20937258 PMID:20956747 PMID:20981092 PMID:21040787 PMID:21055240 PMID:21094084 PMID:21094651 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21388256 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21484990 PMID:21488715 PMID:21510145 PMID:21557232 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21868108 PMID:21910243 PMID:21912263 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22208444 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22704424 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23266159 PMID:23328711 PMID:23451214 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23684175 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23812555 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:23967202 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24078562 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24158896 PMID:24224790 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24372583 PMID:24387126 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24596593 PMID:24611097 PMID:24612839 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24941117 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25153233 PMID:25162826 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25692760 PMID:25708704 PMID:25741868 PMID:25752103 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26397989 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27067584 PMID:27087580 PMID:27153395 PMID:27169813 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27316387 PMID:27398341 PMID:27466889 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28263784 PMID:28271504 PMID:28383030 PMID:28405014 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28640090 PMID:28651654 PMID:28704896 PMID:28900111 PMID:28900455 PMID:29062245 PMID:29086887 PMID:29106882 PMID:29140768 PMID:29148562 PMID:29196752 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29542069 PMID:29605365 PMID:29625052 PMID:29665173 PMID:29754767 PMID:29773520 PMID:29871260 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30068397 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30168495 PMID:30245029 PMID:30275481 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30733538 PMID:30762455 PMID:30828346 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31053783 PMID:31099403 PMID:31160754 PMID:31162818 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31379920 PMID:31419744 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31911633 PMID:31980526 PMID:31992338 PMID:32012697 PMID:32067424 PMID:32090102 PMID:32120898 PMID:32258544 PMID:32300592 PMID:32355288 PMID:32455934 PMID:32645618 PMID:32708339 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34161886 PMID:34276761 PMID:34335733 PMID:34403091 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34599368 PMID:34652575 PMID:35016843 PMID:35182233 PMID:35301649 PMID:35336849 PMID:35396755 PMID:35761346 PMID:35864128 PMID:36048236 PMID:36190904 PMID:36474027 PMID:36579563 PMID:36597107 PMID:36672810 PMID:36788145 PMID:37239361 PMID:38730444 PMID:38831582 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
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NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
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G |
Gjb4 |
gap junction protein, beta 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3a |
ClinVar |
PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 |
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NCBI chr 4:127,234,892...127,247,929
Ensembl chr 4:127,244,879...127,247,874
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G |
Cryl1 |
crystallin, lambda 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:27480936 PMID:28492532 |
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NCBI chr14:57,512,491...57,635,940
Ensembl chr14:57,512,450...57,635,986
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G |
Eef1akmt1 |
EEF1A alpha lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr14:57,787,052...57,809,039
Ensembl chr14:57,787,054...57,809,069
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G |
Gja3 |
gap junction protein, alpha 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557
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G |
Gjb2 |
gap junction protein, beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
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G |
Gjb6 |
gap junction protein, beta 6 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 PMID:12419304 PMID:12788524 PMID:14708603 PMID:15213106 PMID:15769851 PMID:16547895 PMID:16950989 PMID:17160938 PMID:17259707 PMID:17666888 PMID:19723508 PMID:20536673 PMID:20858605 PMID:21731760 PMID:22106692 PMID:22617145 PMID:23219093 PMID:23757202 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24052723 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25214170 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27068579 PMID:27137747 PMID:27480936 PMID:27817781 PMID:28492532 PMID:29739340 PMID:29771057 PMID:30311386 PMID:30620052 PMID:31015822 PMID:31589614 PMID:35062939 PMID:36926140 More...
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NCBI chr14:57,360,760...57,370,764
Ensembl chr14:57,360,760...57,371,068
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G |
Ift88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393
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G |
Il17d |
interleukin 17D |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr14:57,762,197...57,780,623
Ensembl chr14:57,762,234...57,780,623
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G |
Xpo4 |
exportin 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr14:57,814,978...57,906,951
Ensembl chr14:57,814,978...57,902,887
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G |
Crym |
crystallin, mu |
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ISO |
ClinVar Annotator: match by term: CRYM-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 40 |
OMIM ClinVar |
PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 7:119,785,603...119,801,212
Ensembl chr 7:119,785,603...119,801,334
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G |
P2rx2 |
purinergic receptor P2X, ligand-gated ion channel, 2 |
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ISO IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition CTD Direct Evidence: marker/mechanism OMIM:608224 |
OMIM ClinVar CTD MouseDO |
PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 PMID:25788561 PMID:26467025 PMID:28492532 PMID:31636190 More...
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NCBI chr 5:110,487,678...110,491,186
Ensembl chr 5:110,487,678...110,491,078
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G |
Ccdc50 |
coiled-coil domain containing 50 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CCDC50-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 44 DNA:duplication:cds:c.1394_1401dupCACGGCAT(human) |
OMIM CTD ClinVar RGD |
PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 PMID:28492532 PMID:30311386 PMID:17503326 More...
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RGD:9685138 |
NCBI chr16:27,205,815...27,270,968
Ensembl chr16:27,207,619...27,270,968
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G |
Myo1a |
myosin IA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 48 |
ClinVar |
PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 |
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NCBI chr10:127,539,306...127,556,809
Ensembl chr10:127,541,039...127,556,809
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G |
Ceacam16 |
CEA cell adhesion molecule 16 |
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IAGP |
OMIM:600652 |
MouseDO |
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NCBI chr 7:19,586,022...19,595,224
Ensembl chr 7:19,586,022...19,595,224
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G |
Myh14 |
myosin, heavy polypeptide 14 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition |
OMIM ClinVar |
PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 PMID:24033266 PMID:24082139 PMID:25741868 PMID:26284702 PMID:26346818 PMID:26467025 PMID:27068579 PMID:27393652 PMID:27610647 PMID:28166811 PMID:28221712 PMID:28492532 PMID:30311386 PMID:30828794 PMID:31231018 PMID:31393079 PMID:34681017 More...
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NCBI chr 7:44,255,227...44,320,296
Ensembl chr 7:44,255,227...44,320,267
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G |
Ceacam16 |
CEA cell adhesion molecule 16 |
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ISO |
ClinVar Annotator: match by term: CEACAM16-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 4b |
OMIM ClinVar |
PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 PMID:28492532 PMID:30311386 PMID:35802133 PMID:36633841 More...
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NCBI chr 7:19,586,022...19,595,224
Ensembl chr 7:19,586,022...19,595,224
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G |
Gsdme |
gasdermin E |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 5 | ClinVar Annotator: match by term: GSDME-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7427029 PMID:9536098 PMID:14676472 PMID:15173223 PMID:17427029 PMID:17576681 PMID:17868390 PMID:24033266 PMID:24164807 PMID:25741868 PMID:28492532 PMID:29266521 PMID:29849037 PMID:30311386 PMID:34906502 PMID:35114279 More...
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NCBI chr 6:50,167,013...50,240,837
Ensembl chr 6:50,165,868...50,240,842
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G |
Mir96 |
microRNA 96 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 50 | ClinVar Annotator: match by term: MIR96-related condition |
OMIM ClinVar |
PMID:14757864 PMID:19363479 PMID:24033266 |
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NCBI chr 6:30,169,445...30,169,550
Ensembl chr 6:30,169,445...30,169,550
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G |
Tjp2 |
tight junction protein 2 |
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ISO |
ClinVar Annotator: match by term: CHROMOSOME 9q21.11 DUPLICATION SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 51 |
ClinVar |
PMID:20602916 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28924228 PMID:29238877 More...
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NCBI chr19:24,071,860...24,202,492
Ensembl chr19:24,071,869...24,202,394
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G |
Pappa |
pregnancy-associated plasma protein A |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
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NCBI chr 4:65,041,993...65,276,776
Ensembl chr 4:65,042,411...65,275,746
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G |
Tnc |
tenascin C |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition |
OMIM ClinVar |
PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29531218 PMID:30311386 PMID:31190668 PMID:36597107 More...
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NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
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G |
Tnfsf8 |
tumor necrosis factor (ligand) superfamily, member 8 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
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NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
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G |
Cnrip1 |
cannabinoid receptor interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr11:17,001,859...17,029,372
Ensembl chr11:17,001,586...17,029,371
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G |
Plek |
pleckstrin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr11:16,921,206...16,958,718
Ensembl chr11:16,921,206...17,002,381
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G |
Ppp3r1 |
protein phosphatase 3, regulatory subunit B, alpha isoform (calcineurin B, type I) |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr11:17,109,298...17,150,380
Ensembl chr11:17,109,263...17,150,375
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G |
Wfs1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10624825 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11694551 PMID:11709537 PMID:11709538 PMID:11811080 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12490066 PMID:12565131 PMID:12707188 PMID:12707373 PMID:12754709 PMID:12782971 PMID:12913071 PMID:12955714 PMID:15008830 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15852062 PMID:15912360 PMID:16151413 PMID:16408729 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17517145 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19344068 PMID:19877185 PMID:20028947 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21127832 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22226368 PMID:22238590 PMID:22781099 PMID:22938506 PMID:23257691 PMID:23373429 PMID:23429432 PMID:23535966 PMID:23595122 PMID:23596069 PMID:23845777 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25262649 PMID:25388789 PMID:25392243 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25842391 PMID:25895475 PMID:26025012 PMID:26064370 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27045389 PMID:27068579 PMID:27167055 PMID:27185633 PMID:27395765 PMID:27468121 PMID:27617222 PMID:27810688 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28492532 PMID:28559085 PMID:28802351 PMID:28870582 PMID:28974383 PMID:28993341 PMID:29207974 PMID:29529044 PMID:29549887 PMID:29563951 PMID:29632382 PMID:29988211 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30476936 PMID:30577886 PMID:30773290 PMID:30872718 PMID:30957632 PMID:31264968 PMID:31266054 PMID:31313226 PMID:31343797 PMID:31363008 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31589614 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32645618 PMID:32883240 PMID:33046911 PMID:33098801 PMID:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34404380 PMID:34416374 PMID:34426522 PMID:34440452 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34737607 PMID:34746052 PMID:34758253 PMID:34789499 PMID:34803393 PMID:34837038 PMID:34997062 PMID:35018440 PMID:35206658 PMID:35452662 PMID:35469785 PMID:35472603 PMID:35602877 PMID:35872528 PMID:36098976 PMID:36147510 PMID:36208030 PMID:36227502 PMID:36284460 PMID:36330437 PMID:36597107 PMID:36729443 PMID:36933359 PMID:37041640 PMID:37337769 PMID:37508961 PMID:37510321 PMID:37719678 PMID:38400873 More...
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NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549
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G |
B3gnt4 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: DIABLO-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 64 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 5:123,646,519...123,649,945
Ensembl chr 5:123,648,523...123,649,945
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G |
Diablo |
diablo, IAP-binding mitochondrial protein |
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ISO |
ClinVar Annotator: match by term: DIABLO-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 64 |
OMIM ClinVar |
PMID:21722859 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 5:123,649,393...123,664,825
Ensembl chr 5:123,647,828...123,662,239
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G |
Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 65 |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:28951997 PMID:29358611 More...
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NCBI chr17:24,441,518...24,470,333
Ensembl chr17:24,441,172...24,470,458
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 65 |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24729539 PMID:24729547 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27669036 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:28726039 PMID:28951997 PMID:29100083 PMID:29358611 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30680869 PMID:30776697 PMID:31112829 PMID:31216405 PMID:31257402 PMID:31618474 PMID:31780880 PMID:32004315 PMID:33063868 PMID:33281559 PMID:33619735 PMID:33986365 PMID:35350397 More...
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NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
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G |
Cd164 |
CD164 antigen |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 | ClinVar Annotator: match by term: CD164-related condition |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:26197441 PMID:28492532 |
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NCBI chr10:41,395,496...41,407,038
Ensembl chr10:41,395,410...41,407,044
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G |
Osbpl2 |
oxysterol binding protein-like 2 |
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IAGP |
OMIM:616340 |
MouseDO |
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NCBI chr 2:179,758,059...179,804,475
Ensembl chr 2:179,761,099...179,804,473
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G |
Homer2 |
homer scaffolding protein 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 68 | ClinVar Annotator: match by term: HOMER2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:25816005 PMID:26467025 PMID:28492532 PMID:30047143 PMID:30311386 More...
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NCBI chr 7:81,250,229...81,356,673
Ensembl chr 7:81,250,229...81,357,275
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G |
Kitl |
kit ligand |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 |
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NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278
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Lmx1a |
LIM homeobox transcription factor 1 alpha |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 7 | ClinVar Annotator: match by term: LMX1A-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:28492532 PMID:29754270 PMID:30311386 PMID:32840933 PMID:35711095 PMID:36140227 More...
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NCBI chr 1:167,515,864...167,676,310
Ensembl chr 1:167,516,806...167,676,310
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Mcm2 |
minichromosome maintenance complex component 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 70 | ClinVar Annotator: match by term: MCM2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26196677 PMID:26467025 PMID:28492532 PMID:29706348 |
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NCBI chr 6:88,860,456...88,875,762
Ensembl chr 6:88,860,456...88,875,762
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Dmxl2 |
Dmx-like 2 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 71 | ClinVar Annotator: match by term: Deafness, autosomal dominant 71 |
OMIM ClinVar |
PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 PMID:36633841 More...
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NCBI chr 9:54,272,442...54,409,150
Ensembl chr 9:54,272,442...54,408,910
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Slc44a4 |
solute carrier family 44, member 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28013291 PMID:28492532 |
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NCBI chr17:35,133,200...35,149,412
Ensembl chr17:35,133,442...35,149,412
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Ptprq |
protein tyrosine phosphatase receptor type Q |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 |
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NCBI chr10:107,350,224...107,555,939
Ensembl chr10:107,352,910...107,555,912
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Pde1c |
phosphodiesterase 1C |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 74 | ClinVar Annotator: match by term: Deafness, autosomal dominant 74 | ClinVar Annotator: match by term: PDE1C-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29860631 |
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NCBI chr 6:56,046,783...56,629,590
Ensembl chr 6:56,046,789...56,629,472
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Trrap |
transformation/transcription domain-associated protein |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 75 | ClinVar Annotator: match by term: Deafness, autosomal dominant 75 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31231791 |
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NCBI chr 5:144,704,547...144,796,588
Ensembl chr 5:144,704,542...144,796,588
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Pls1 |
plastin 1 (I-isoform) |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition |
OMIM ClinVar |
PMID:25124451 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 PMID:36537221 More...
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NCBI chr 9:95,634,695...95,727,359
Ensembl chr 9:95,634,695...95,727,364
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Abcc1 |
ATP-binding cassette, sub-family C member 1 |
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ISO |
ClinVar Annotator: match by term: ABCC1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 77 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31273342 |
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NCBI chr16:14,179,317...14,292,743
Ensembl chr16:14,179,422...14,293,601
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Slc12a2 |
solute carrier family 12, member 2 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 78 | ClinVar Annotator: match by term: Deafness, autosomal dominant 78 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30311386 PMID:30740830 PMID:32294086 PMID:32658972 PMID:32754646 PMID:34226616 More...
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NCBI chr18:58,011,505...58,079,893
Ensembl chr18:58,011,750...58,079,893
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Scd3 |
stearoyl-coenzyme A desaturase 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 79 |
OMIM ClinVar |
PMID:31972369 |
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NCBI chr19:44,191,727...44,232,455
Ensembl chr19:44,191,708...44,232,455
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Greb1l |
growth regulation by estrogen in breast cancer-like |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 80 | ClinVar Annotator: match by term: Deafness, autosomal dominant 80 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29100090 PMID:29955957 PMID:30311386 PMID:32378186 PMID:32585897 More...
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NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940
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Myo7a |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 80 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731
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Elmod3 |
ELMO/CED-12 domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 81 | ClinVar Annotator: match by term: ELMOD3-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29713870 |
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NCBI chr 6:72,542,905...72,575,396
Ensembl chr 6:72,542,905...72,575,396
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Atp2b2 |
ATPase, Ca++ transporting, plasma membrane 2 |
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ISO |
ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30535804 |
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NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574
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Map1b |
microtubule-associated protein 1B |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 83 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33268592 |
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NCBI chr13:99,557,972...99,653,110
Ensembl chr13:99,557,954...99,653,048
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Atp11a |
ATPase, class VI, type 11A |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 |
ClinVar OMIM |
PMID:25741868 PMID:30311386 PMID:35278131 |
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NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728
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Usp48 |
ubiquitin specific peptidase 48 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 85 |
OMIM ClinVar |
PMID:25741868 PMID:34059922 |
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NCBI chr 4:137,321,079...137,385,842
Ensembl chr 4:137,321,066...137,385,848
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Thoc1 |
THO complex 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 86 |
OMIM ClinVar |
PMID:25741868 PMID:32776944 |
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NCBI chr18:9,958,176...9,995,486
Ensembl chr18:9,957,906...9,995,489
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Pi4kb |
phosphatidylinositol 4-kinase beta |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 87 | ClinVar Annotator: match by term: PI4KB-related condition |
ClinVar OMIM |
PMID:33358777 |
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NCBI chr 3:94,882,042...94,914,248
Ensembl chr 3:94,882,042...94,914,154
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Epha10 |
Eph receptor A10 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 88 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 4:124,775,408...124,811,594
Ensembl chr 4:124,774,692...124,811,593
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Atoh1 |
atonal bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: ATOH1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 89 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33111345 |
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NCBI chr 6:64,706,109...64,708,229
Ensembl chr 6:64,706,109...64,708,229
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Coch |
cochlin |
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ISO IAGP |
ClinVar Annotator: match by term: COCH-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 9 CTD Direct Evidence: marker/mechanism OMIM:601369 |
OMIM ClinVar CTD MouseDO |
PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 PMID:12928864 PMID:14512963 PMID:16078052 PMID:16151338 PMID:16151339 PMID:16261627 PMID:16481359 PMID:17368553 PMID:18312449 PMID:18697796 PMID:19161137 PMID:20228067 PMID:20447147 PMID:21046548 PMID:21073934 PMID:22534022 PMID:24033266 PMID:24662630 PMID:25049087 PMID:25230692 PMID:25741868 PMID:25780252 PMID:26256111 PMID:26467025 PMID:28492532 PMID:28733840 PMID:29449721 PMID:30311386 PMID:32562050 PMID:35901072 More...
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NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554
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Myo3a |
myosin IIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 90 |
OMIM ClinVar |
PMID:25741868 PMID:26841241 PMID:28492532 PMID:29880844 PMID:34788109 |
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NCBI chr 2:22,232,360...22,508,693
Ensembl chr 2:22,232,316...22,508,264
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Cdk13 |
cyclin dependent kinase 13 |
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ISO |
ClinVar Annotator: match by term: Wolfram-like disorder |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33879837 |
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NCBI chr13:17,885,309...17,979,960
Ensembl chr13:17,884,900...17,979,682
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Wfs1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3126496 PMID:3478949 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11709537 PMID:11709538 PMID:11811080 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12707373 PMID:12754709 PMID:12913071 PMID:12955714 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19344068 PMID:19877185 PMID:20028947 PMID:20069065 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22226368 PMID:22238590 PMID:22781099 PMID:23373429 PMID:23429432 PMID:23596069 PMID:23981289 PMID:24033266 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25262649 PMID:25388789 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27045389 PMID:27068579 PMID:27167055 PMID:27217304 PMID:27395765 PMID:27468121 PMID:27617222 PMID:27810688 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28559085 PMID:28802351 PMID:28974383 PMID:29207974 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30476936 PMID:30577886 PMID:30773290 PMID:30872718 PMID:30957632 PMID:31264968 PMID:31266054 PMID:31313226 PMID:31343797 PMID:31363008 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31589614 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32645618 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33098801 PMID:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34404380 PMID:34416374 PMID:34426522 PMID:34440452 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34746052 PMID:34758253 PMID:34789499 PMID:34837038 PMID:34997062 PMID:35018440 PMID:35206658 PMID:35469785 PMID:35472603 PMID:35602877 PMID:35872528 PMID:36098976 PMID:36147510 PMID:36208030 PMID:36227502 PMID:36284460 PMID:36330437 PMID:36597107 PMID:36729443 PMID:36933359 PMID:37041640 PMID:37337769 PMID:37508961 PMID:37510321 PMID:37719678 PMID:38400873 More...
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NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549
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Adgrv1 |
adhesion G protein-coupled receptor V1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28951997 PMID:30303587 |
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NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273
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G |
Anapc15 |
anaphase promoting complex C subunit 15 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 |
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NCBI chr 7:101,530,508...101,551,056
Ensembl chr 7:101,512,922...101,551,056
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Atp6v1b1 |
ATPase, H+ transporting, lysosomal V1 subunit B1 |
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IAGP |
OMIM:607197 |
MouseDO |
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NCBI chr 6:83,719,999...83,735,837
Ensembl chr 6:83,719,972...83,735,837
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Bsnd |
barttin CLCNK type accessory beta subunit |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 PMID:16935888 PMID:18776122 PMID:19646679 PMID:21269598 PMID:21541222 PMID:21865213 PMID:25741868 PMID:26537508 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480
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G |
Cabp2 |
calcium binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 PMID:30303587 PMID:30311386 PMID:32681043 PMID:32991204 PMID:33269433 PMID:33666369 PMID:35150090 PMID:39062623 More...
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NCBI chr19:4,131,469...4,137,340
Ensembl chr19:4,131,578...4,137,340
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Cdh23 |
cadherin related 23 (otocadherin) |
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ISO |
DNA:missense mutations:multiple ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar RGD |
PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:15353998 PMID:16199547 PMID:16679490 PMID:17407589 PMID:18429043 PMID:19683999 PMID:19888295 PMID:20513143 PMID:20613545 PMID:21436283 PMID:21569298 PMID:21917145 PMID:21940737 PMID:22899989 PMID:23794683 PMID:23804846 PMID:24006325 PMID:24033266 PMID:24498627 PMID:25404053 PMID:25741868 PMID:25963016 PMID:26467025 PMID:27018795 PMID:27460420 PMID:27573290 PMID:27792758 PMID:28492532 PMID:29148562 PMID:30303587 PMID:30311386 PMID:31445392 PMID:31546658 PMID:31980526 PMID:32467589 PMID:32485727 PMID:32645618 PMID:32842620 PMID:35020051 PMID:35982127 PMID:36460718 PMID:17850630 More...
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RGD:8662281 |
NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
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Ceacam16 |
CEA cell adhesion molecule 16 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30311386 |
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NCBI chr 7:19,586,022...19,595,224
Ensembl chr 7:19,586,022...19,595,224
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G |
Cib2 |
calcium and integrin binding family member 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:23023331 PMID:24033266 PMID:25741868 PMID:26214305 PMID:26426422 PMID:28492532 PMID:28663585 PMID:29112224 PMID:30303587 PMID:30311386 PMID:34837038 More...
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NCBI chr 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502
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Clcc1 |
chloride channel CLIC-like 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr 3:108,561,194...108,586,156
Ensembl chr 3:108,561,229...108,586,156
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G |
Clcnka |
chloride channel, voltage-sensitive Ka |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
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NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035
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G |
Cldn14 |
claudin 14 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 PMID:30311386 More...
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NCBI chr16:93,715,919...93,809,733
Ensembl chr16:93,715,919...93,809,696
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G |
Clic5 |
chloride intracellular channel 5 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr17:44,445,671...44,591,059
Ensembl chr17:44,445,659...44,591,059
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G |
Dysf |
dysferlin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:28492532 |
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NCBI chr 6:83,985,344...84,188,042
Ensembl chr 6:83,985,572...84,188,042
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G |
Ednrb |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 PMID:25741868 PMID:29106856 PMID:30303587 PMID:30936914 PMID:31240788 PMID:32747562 PMID:33095980 PMID:35790984 More...
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NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838
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G |
Eps8 |
epidermal growth factor receptor pathway substrate 8 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:30303587 |
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NCBI chr 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874
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G |
Espn |
espin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828
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G |
Esrrb |
estrogen related receptor, beta |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 |
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NCBI chr12:86,407,891...86,568,402
Ensembl chr12:86,407,891...86,568,402
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G |
Gipc3 |
GIPC PDZ domain containing family, member 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr10:81,171,096...81,179,452
Ensembl chr10:81,171,099...81,179,100
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G |
Gjb2 |
gap junction protein, beta 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9819448 PMID:9856479 PMID:10204859 PMID:10218527 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10830906 PMID:10980526 PMID:10982180 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11354642 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551104 PMID:11556849 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11807148 PMID:11935342 PMID:11968091 PMID:12081719 PMID:12121355 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12239718 PMID:12372058 PMID:12505163 PMID:12522556 PMID:12560944 PMID:12668604 PMID:12684873 PMID:12700168 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:14070830 PMID:14643477 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15151513 PMID:15219044 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15790391 PMID:15855033 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16088916 PMID:16125251 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379542 PMID:16380907 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16868655 PMID:16945493 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17253936 PMID:17331080 PMID:17406097 PMID:17428550 PMID:17462767 PMID:17553572 PMID:17576681 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18451998 PMID:18570691 PMID:18776652 PMID:18793701 PMID:18804553 PMID:18924167 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:19072567 PMID:19157576 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19465004 PMID:19707039 PMID:19715472 PMID:19814620 PMID:19925344 PMID:19929407 PMID:19929408 PMID:20022641 PMID:20073550 PMID:20086291 PMID:20096356 PMID:20201936 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20407643 PMID:20563649 PMID:20739944 PMID:20815033 PMID:20890442 PMID:21040787 PMID:21122151 PMID:21220926 PMID:21465647 PMID:21468573 PMID:21488715 PMID:21510145 PMID:21776002 PMID:21811586 PMID:21910243 PMID:22000900 PMID:22106692 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22613756 PMID:22695344 PMID:22855627 PMID:22975760 PMID:22981120 PMID:22995991 PMID:23073770 PMID:23141775 PMID:23451214 PMID:23489192 PMID:23504403 PMID:23637863 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23757202 PMID:23873582 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24158611 PMID:24346070 PMID:24387126 PMID:24529908 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25153233 PMID:25189242 PMID:25262649 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25555641 PMID:25636251 PMID:25741868 PMID:25999548 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26188157 PMID:26381000 PMID:26445815 PMID:26467025 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26969326 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27308839 PMID:27316387 PMID:27481527 PMID:27623246 PMID:27843504 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28900455 PMID:29062245 PMID:29086887 PMID:29362677 PMID:29501291 PMID:29542069 PMID:29921236 PMID:29926981 PMID:30086704 PMID:30094485 PMID:30303587 PMID:30311386 PMID:30431684 PMID:30872814 PMID:30989077 PMID:31160754 PMID:31346875 PMID:31562289 PMID:31827275 PMID:32708339 PMID:32747562 PMID:33187236 PMID:33524517 PMID:33614373 PMID:34440441 PMID:34599368 PMID:35016843 PMID:35396755 PMID:36190904 PMID:36474027 PMID:37239361 PMID:38730444 PMID:38831582 More...
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NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
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Gjb3 |
gap junction protein, beta 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10587579 |
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NCBI chr 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637
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G |
Gm17455 |
predicted gene, 17455 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 PMID:27460420 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338
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G |
Gosr2 |
golgi SNAP receptor complex member 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:35802133 PMID:37074134 |
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NCBI chr11:103,567,675...103,590,139
Ensembl chr11:103,567,675...103,588,724
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G |
Gpr156 |
G protein-coupled receptor 156 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:37814107 |
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NCBI chr16:37,736,551...37,827,892
Ensembl chr16:37,736,858...37,827,892
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G |
Gpsm2 |
G-protein signalling modulator 2 (AGS3-like, C. elegans) |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:20602914 PMID:22578326 PMID:25741868 PMID:30303587 PMID:32747562 |
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NCBI chr 3:108,585,954...108,629,637
Ensembl chr 3:108,585,954...108,629,625
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G |
Grxcr1 |
glutaredoxin, cysteine rich 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:20137778 PMID:24033266 PMID:28492532 PMID:30303587 |
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NCBI chr 5:68,189,122...68,323,741
Ensembl chr 5:68,189,178...68,323,741
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G |
Grxcr2 |
glutaredoxin, cysteine rich 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr18:42,118,388...42,132,114
Ensembl chr18:42,118,388...42,132,114
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G |
Ildr1 |
immunoglobulin-like domain containing receptor 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:15641023 PMID:21255762 PMID:25741868 PMID:30303587 |
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NCBI chr16:36,514,340...36,547,166
Ensembl chr16:36,514,340...36,547,166
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G |
Kars1 |
lysyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 PMID:30311386 PMID:30369941 PMID:31116475 More...
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NCBI chr 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955
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G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 |
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NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652
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G |
Lhfpl5 |
lipoma HMGIC fusion partner-like 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 PMID:30311386 More...
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NCBI chr17:28,794,330...28,802,567
Ensembl chr17:28,794,615...28,804,653
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Loxhd1 |
lipoxygenase homology domains 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:16199547 PMID:19732867 PMID:21465660 PMID:24033266 PMID:25741868 PMID:25792669 PMID:28000701 PMID:28492532 PMID:29676012 PMID:30311386 More...
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NCBI chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626
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G |
Lrrc51 |
leucine rich repeat containing 51 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr 7:101,562,196...101,583,126
Ensembl chr 7:101,562,191...101,583,102
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G |
Marveld2 |
MARVEL (membrane-associating) domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:24033266 PMID:30303587 |
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NCBI chr13:100,732,465...100,753,479
Ensembl chr13:100,732,465...100,753,479
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G |
Mpzl2 |
myelin protein zero-like 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 |
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NCBI chr 9:44,951,595...44,965,341
Ensembl chr 9:44,951,097...44,965,313
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G |
Msrb3 |
methionine sulfoxide reductase B3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 |
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NCBI chr10:120,617,005...120,735,132
Ensembl chr10:120,617,001...120,735,006
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Myh9 |
myosin, heavy polypeptide 9, non-muscle |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
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G |
Myo15a |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17546645 PMID:17576681 PMID:19309289 PMID:25373420 PMID:25741868 PMID:26969326 PMID:27375115 PMID:27573290 PMID:28492532 PMID:30303587 PMID:30311386 PMID:30953472 PMID:35346193 PMID:35440622 PMID:35802133 PMID:36633841 More...
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NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195
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G |
Myo3a |
myosin IIIA |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 |
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NCBI chr 2:22,232,360...22,508,693
Ensembl chr 2:22,232,316...22,508,264
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G |
Myo6 |
myosin VI |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011
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G |
Myo7a |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 PMID:12112664 PMID:15043528 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:18181211 PMID:19074810 PMID:20052763 PMID:21311020 PMID:21436283 PMID:21569298 PMID:21873662 PMID:22135276 PMID:22898263 PMID:23383098 PMID:23451239 PMID:23591405 PMID:23770805 PMID:24033266 PMID:24194196 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25558175 PMID:25741868 PMID:25798947 PMID:26226137 PMID:26469752 PMID:26791358 PMID:27344577 PMID:27460420 PMID:27573290 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29692870 PMID:30303587 PMID:30311386 PMID:30459346 PMID:30718709 PMID:31479088 PMID:31964843 PMID:32531858 PMID:33089500 PMID:33187236 PMID:33269433 PMID:33671976 PMID:34148116 PMID:36147510 PMID:36909829 PMID:38189974 More...
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NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731
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G |
Otoa |
otoancorin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 |
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NCBI chr 7:120,682,647...120,762,316
Ensembl chr 7:120,680,873...120,762,320
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Otof |
otoferlin |
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IAGP ISO |
DNA:missense mutation:cds:p.I318N (mouse) ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar RGD |
PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:19461658 PMID:20301429 PMID:22575033 PMID:24033266 PMID:25741868 PMID:26632695 PMID:27082237 PMID:28492532 PMID:30303587 PMID:30311386 PMID:34113375 PMID:34652575 PMID:17967520 More...
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RGD:9479154 |
NCBI chr 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276
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G |
Otog |
otogelin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 PMID:30311386 |
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NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858
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G |
Otogl |
otogelin-like |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr10:107,596,391...107,748,240
Ensembl chr10:107,596,392...107,747,995
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G |
Pcdh15 |
protocadherin 15 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30303587 |
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NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569
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G |
Pdzd7 |
PDZ domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:20440071 PMID:25741868 PMID:28492532 PMID:29048736 PMID:30311386 PMID:31253780 More...
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NCBI chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156
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G |
Pjvk |
pejvakin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 PMID:32747562 More...
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NCBI chr 2:76,480,617...76,488,898
Ensembl chr 2:76,478,820...76,488,900
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G |
Pou4f3 |
POU domain, class 4, transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr18:42,527,662...42,529,158
Ensembl chr18:42,527,604...42,530,314
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G |
Prkra |
protein kinase, interferon inducible double stranded RNA dependent activator |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 2:76,436,385...76,478,614
Ensembl chr 2:76,460,242...76,478,359
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G |
Psap |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
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G |
Ptprq |
protein tyrosine phosphatase receptor type Q |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 PMID:30311386 |
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NCBI chr10:107,350,224...107,555,939
Ensembl chr10:107,352,910...107,555,912
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G |
Rdx |
radixin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 |
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NCBI chr 9:51,958,450...52,000,038
Ensembl chr 9:51,958,473...52,011,763
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G |
Slc26a4 |
solute carrier family 26, member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 PMID:10874637 PMID:10902795 PMID:11317356 PMID:11502831 PMID:11748854 PMID:11919333 PMID:11932316 PMID:12112665 PMID:12676893 PMID:12974744 PMID:14508505 PMID:14679580 PMID:15355436 PMID:15574297 PMID:15679828 PMID:15747138 PMID:15811013 PMID:15933521 PMID:16053392 PMID:16283880 PMID:16460646 PMID:16570074 PMID:16711435 PMID:16924389 PMID:16950989 PMID:17125574 PMID:17309986 PMID:17443271 PMID:17576681 PMID:17718863 PMID:17766716 PMID:18167283 PMID:18285825 PMID:18641518 PMID:18813951 PMID:19017801 PMID:19040761 PMID:19169484 PMID:19287372 PMID:19426954 PMID:19509082 PMID:19608655 PMID:19786220 PMID:20137612 PMID:20301640 PMID:20597900 PMID:20668687 PMID:20842945 PMID:21154317 PMID:21366435 PMID:21704276 PMID:21961810 PMID:22116358 PMID:22116360 PMID:22903915 PMID:23151025 PMID:23185506 PMID:23273637 PMID:23296490 PMID:23336812 PMID:23504402 PMID:23638949 PMID:23718755 PMID:23770805 PMID:23918157 PMID:23958391 PMID:23965030 PMID:24007330 PMID:24033266 PMID:24105851 PMID:24224479 PMID:24248179 PMID:24338212 PMID:24599119 PMID:24949729 PMID:25015771 PMID:25266519 PMID:25290043 PMID:25317404 PMID:25372295 PMID:25394566 PMID:25468468 PMID:25491636 PMID:25525159 PMID:25741868 PMID:26100058 PMID:26226137 PMID:26252218 PMID:26445815 PMID:26683941 PMID:26752218 PMID:26763877 PMID:27541434 PMID:27573290 PMID:27771369 PMID:28444304 PMID:28492532 PMID:28604962 PMID:28941661 PMID:28964290 PMID:29372807 PMID:30077349 PMID:30303587 PMID:30311386 PMID:30622556 PMID:30693673 PMID:30760291 PMID:31581539 PMID:31599023 PMID:31700827 PMID:31971949 PMID:32417962 PMID:32447495 PMID:32747562 PMID:33614372 PMID:34170635 PMID:34599368 PMID:35982127 More...
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NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968
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G |
Slc26a5 |
solute carrier family 26, member 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr 5:22,013,999...22,070,602
Ensembl chr 5:22,015,653...22,070,602
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G |
Tecta |
tectorin alpha |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:30303587 |
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NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225
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G |
Tmc1 |
transmembrane channel-like gene family 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 PMID:18616530 PMID:19187973 PMID:20373850 PMID:21250555 PMID:21917145 PMID:22105175 PMID:22607986 PMID:23767834 PMID:24033266 PMID:24416283 PMID:24949729 PMID:25074487 PMID:25491636 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30303587 PMID:30311386 PMID:31028865 PMID:31379920 PMID:31541171 PMID:31854501 PMID:32747562 PMID:34523024 More...
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NCBI chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566
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Tmie |
transmembrane inner ear |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr 9:110,694,755...110,709,141
Ensembl chr 9:110,694,779...110,709,181
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Tmprss3 |
transmembrane protease, serine 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:17551081 PMID:22975204 PMID:24033266 PMID:25741868 PMID:26226137 PMID:26445815 PMID:26969326 PMID:28492532 PMID:29889784 PMID:30303587 PMID:30311386 PMID:30622556 PMID:34440452 PMID:34868270 More...
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NCBI chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951
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Togaram2 |
TOG array regulator of axonemal microtubules 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:20642360 PMID:38374469 |
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NCBI chr17:71,980,153...72,036,666
Ensembl chr17:71,980,256...72,036,664
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Tomt |
transmembrane O-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:101,549,010...101,555,572
Ensembl chr 7:101,547,577...101,555,566
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Tprn |
taperin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:20170899 PMID:30303587 |
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NCBI chr 2:25,152,610...25,159,898
Ensembl chr 2:25,152,630...25,159,897
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Triobp |
TRIO and F-actin binding protein |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:16385457 PMID:16385458 PMID:20510926 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr15:78,831,924...78,890,069
Ensembl chr15:78,831,924...78,890,069
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Ush1c |
USH1 protein network component harmonin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 PMID:12702164 PMID:17407589 PMID:20301442 PMID:21203349 PMID:21569298 PMID:22135276 PMID:24033266 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26969326 PMID:27460420 PMID:28041643 PMID:28492532 PMID:30303587 PMID:30718709 More...
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NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927
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Ush1g |
USH1 protein network component sans |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:30303587 |
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NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867
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Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 PMID:28492532 PMID:30303587 More...
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NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238
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Whrn |
whirlin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
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NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228
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Ppip5k2 |
diphosphoinositol pentakisphosphate kinase 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 100 | ClinVar Annotator: match by term: PPIP5K2-related condition |
OMIM ClinVar |
PMID:15538632 PMID:25741868 PMID:29590114 |
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NCBI chr 1:97,633,768...97,698,133
Ensembl chr 1:97,633,773...97,698,136
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Grxcr2 |
glutaredoxin, cysteine rich 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 101 | ClinVar Annotator: match by term: GRXCR2-related condition |
OMIM ClinVar |
PMID:24619944 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 |
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NCBI chr18:42,118,388...42,132,114
Ensembl chr18:42,118,388...42,132,114
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Eps8 |
epidermal growth factor receptor pathway substrate 8 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 102 | ClinVar Annotator: match by term: EPS8-related condition |
OMIM ClinVar |
PMID:24033266 PMID:24741995 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874
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Clic5 |
chloride intracellular channel 5 |
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ISO |
ClinVar Annotator: match by term: CLIC5-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 103 |
OMIM ClinVar |
PMID:24033266 PMID:24781754 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More...
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NCBI chr17:44,445,671...44,591,059
Ensembl chr17:44,445,659...44,591,059
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Gjb2 |
gap junction protein, beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 104 |
ClinVar |
PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9819448 PMID:10204859 PMID:10218527 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11551104 PMID:11668644 PMID:11807148 PMID:11935342 PMID:12081719 PMID:12172392 PMID:12176036 PMID:12239718 PMID:12522556 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12792423 PMID:14070830 PMID:14694360 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15070423 PMID:15113126 PMID:15359540 PMID:15666300 PMID:15954104 PMID:15967879 PMID:16088916 PMID:16336662 PMID:16380907 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16868655 PMID:17406097 PMID:17428550 PMID:17553572 PMID:17576681 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18804553 PMID:18925674 PMID:18985073 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19814620 PMID:19925344 PMID:20022641 PMID:20073550 PMID:20086291 PMID:20201936 PMID:20236118 PMID:20301449 PMID:20739944 PMID:20815033 PMID:21122151 PMID:21220926 PMID:21465647 PMID:21468573 PMID:21776002 PMID:21910243 PMID:22000900 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22855627 PMID:22975760 PMID:22981120 PMID:23489192 PMID:23680645 PMID:23757202 PMID:24039984 PMID:24158611 PMID:24346070 PMID:24529908 PMID:24793888 PMID:24840842 PMID:24959830 PMID:25012701 PMID:25189242 PMID:25288386 PMID:25555641 PMID:25741868 PMID:25999548 PMID:26059209 PMID:26096904 PMID:26445815 PMID:26467025 PMID:26969326 PMID:27177978 PMID:27224056 PMID:27481527 PMID:27843504 PMID:28428247 PMID:28492532 PMID:29362677 PMID:29501291 PMID:30086704 PMID:30303587 PMID:30311386 PMID:30431684 PMID:30872814 PMID:31160754 PMID:31346875 PMID:32708339 PMID:32747562 PMID:33524517 PMID:34440441 PMID:35396755 PMID:36474027 PMID:37239361 More...
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NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
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Ripor2 |
RHO family interacting cell polarization regulator 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition |
OMIM ClinVar |
PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr13:24,685,513...24,917,789
Ensembl chr13:24,685,508...24,917,799
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Eps8 |
epidermal growth factor receptor pathway substrate 8 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 106 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874
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Eps8l2 |
EPS8-like 2 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 | ClinVar Annotator: match by term: Deafness, autosomal recessive 106 | ClinVar Annotator: match by term: EPS8L2-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26282398 PMID:28281779 PMID:28492532 PMID:30311386 PMID:32747562 More...
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NCBI chr 7:140,918,824...140,942,933
Ensembl chr 7:140,918,793...140,942,933
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Wbp2 |
WW domain binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 107 | ClinVar Annotator: match by term: WBP2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26881968 PMID:28492532 |
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NCBI chr11:115,969,397...115,977,821
Ensembl chr11:115,969,399...115,977,821
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Ror1 |
receptor tyrosine kinase-like orphan receptor 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 108 | ClinVar Annotator: match by term: ROR1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:27162350 PMID:28492532 |
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NCBI chr 4:99,952,988...100,302,003
Ensembl chr 4:99,952,988...100,301,962
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Esrp1 |
epithelial splicing regulatory protein 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 109 | ClinVar Annotator: match by term: ESRP1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29107558 |
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NCBI chr 4:11,331,933...11,386,783
Ensembl chr 4:11,331,933...11,386,783
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Coch |
cochlin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 110 |
OMIM ClinVar |
PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 PMID:30311386 PMID:31126177 PMID:32562050 More...
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NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554
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Mpzl2 |
myelin protein zero-like 2 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 111 | ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 PMID:35599849 PMID:35802133 PMID:36633841 More...
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NCBI chr 9:44,951,595...44,965,341
Ensembl chr 9:44,951,097...44,965,313
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Bdp1 |
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB |
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ISO |
ClinVar Annotator: match by term: BDP1-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 112 | ClinVar Annotator: match by term: Deafness, autosomal recessive 112 |
OMIM ClinVar |
PMID:24312468 PMID:25741868 PMID:26467025 |
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NCBI chr13:100,154,502...100,244,524
Ensembl chr13:100,154,502...100,240,578
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Ceacam16 |
CEA cell adhesion molecule 16 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 113 |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 PMID:30311386 PMID:33111345 More...
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NCBI chr 7:19,586,022...19,595,224
Ensembl chr 7:19,586,022...19,595,224
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Grap |
GRB2-related adaptor protein |
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ISO |
ClinVar Annotator: match by term: Hearing loss, autosomal recessive 114 |
OMIM ClinVar |
PMID:25741868 PMID:30610177 |
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NCBI chr11:61,544,081...61,563,610
Ensembl chr11:61,544,091...61,563,610
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Spns2 |
SPNS lysolipid transporter 2, sphingosine-1-phosphate |
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ISO |
ClinVar Annotator: match by term: Hearing loss, autosomal recessive 115 | ClinVar Annotator: match by term: SPNS2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:72,342,464...72,380,797
Ensembl chr11:72,342,464...72,380,730
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Cldn9 |
claudin 9 |
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ISO |
ClinVar Annotator: match by term: CLDN9-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 116 |
OMIM ClinVar |
PMID:25741868 PMID:30311386 PMID:31175426 PMID:34265170 PMID:35802133 PMID:36633841 More...
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NCBI chr17:23,901,558...23,903,000
Ensembl chr17:23,901,558...23,903,000
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Clrn2 |
clarin 2 |
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ISO |
ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 |
OMIM ClinVar |
PMID:25741868 PMID:33496845 PMID:38243601 |
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NCBI chr 5:45,611,021...45,621,824
Ensembl chr 5:45,611,093...45,621,491
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Afg2b |
AFG2 AAA ATPase homolog B |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 |
OMIM ClinVar |
PMID:25741868 PMID:26138355 PMID:28492532 PMID:34626583 |
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NCBI chr 2:122,461,112...122,474,933
Ensembl chr 2:122,461,120...122,474,750
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Atp2b2 |
ATPase, Ca++ transporting, plasma membrane 2 |
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ISO |
ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15829536 PMID:22047666 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29452611 More...
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NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574
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Cdh23 |
cadherin related 23 (otocadherin) |
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ISO IAGP |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 CTD Direct Evidence: marker/mechanism OMIM:601386 |
OMIM ClinVar CTD MouseDO |
PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:12910270 PMID:15353998 PMID:15537665 PMID:15660226 PMID:15829536 PMID:16199547 PMID:16281288 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18368581 PMID:18429043 PMID:18484607 PMID:19375528 PMID:19683999 PMID:19888295 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21917145 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23794683 PMID:23804846 PMID:23967202 PMID:24006325 PMID:24033266 PMID:24082139 PMID:24164807 PMID:24416283 PMID:24444108 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25333064 PMID:25356970 PMID:25373420 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25575603 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:26226137 PMID:26264712 PMID:26346818 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26633542 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27208204 PMID:27349180 PMID:27460420 PMID:27583405 PMID:27583663 PMID:27610647 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28000701 PMID:28383030 PMID:28413019 PMID:28483220 PMID:28492532 PMID:28501645 PMID:28847902 PMID:28902392 PMID:28912962 PMID:29048421 PMID:29148562 PMID:29287849 PMID:29343940 PMID:29568747 PMID:29889784 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30622556 PMID:30718709 PMID:30733538 PMID:30828794 PMID:30872718 PMID:31054281 PMID:31152317 PMID:31445392 PMID:31541171 PMID:31546658 PMID:31816670 PMID:31850270 PMID:31872526 PMID:31980526 PMID:32141364 PMID:32238869 PMID:32279305 PMID:32467589 PMID:32485727 PMID:32645618 PMID:32707200 PMID:32747562 PMID:32842620 PMID:32860223 PMID:32991204 PMID:33111992 PMID:33316915 PMID:33576794 PMID:33724713 PMID:33924653 PMID:34265623 PMID:34335733 PMID:34416374 PMID:34426522 PMID:34515852 PMID:34744965 PMID:34752165 PMID:34824372 PMID:34906470 PMID:34906502 PMID:34948090 PMID:34997062 PMID:34997822 PMID:35020051 PMID:35062939 PMID:35186827 PMID:35248088 PMID:35440622 PMID:35580552 PMID:35802133 PMID:35982127 PMID:36460718 PMID:36597107 PMID:36633841 PMID:36672845 PMID:38927702 More...
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NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
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Gjb2 |
gap junction protein, beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:24367894 PMID:25741868 |
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NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
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Gm17455 |
predicted gene, 17455 |
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ISO |
ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17850630 PMID:18273900 PMID:18429043 PMID:19683999 PMID:20146813 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22899989 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:27610647 PMID:28413019 PMID:28492532 PMID:28847902 PMID:30303587 PMID:30311386 PMID:31445392 PMID:31541171 PMID:33924653 PMID:34335733 PMID:35020051 PMID:36597107 More...
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NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338
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Psap |
prosaposin |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 More...
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NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
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Vsir |
V-set immunoregulatory receptor |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:25741868 |
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NCBI chr10:60,182,630...60,266,073
Ensembl chr10:60,182,630...60,208,463
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Minar2 |
membrane integral NOTCH2 associated receptor 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 120 |
OMIM ClinVar |
PMID:35727972 |
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NCBI chr18:59,195,264...59,210,034
Ensembl chr18:59,195,320...59,210,034
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Obscn |
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 120 |
ClinVar |
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NCBI chr11:58,885,082...59,027,201
Ensembl chr11:58,885,082...59,029,996
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Gpr156 |
G protein-coupled receptor 156 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 121 |
OMIM ClinVar |
PMID:25741868 PMID:37814107 |
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NCBI chr16:37,736,551...37,827,892
Ensembl chr16:37,736,858...37,827,892
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Tmtc4 |
transmembrane and tetratricopeptide repeat containing 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 122 |
OMIM ClinVar |
PMID:37943620 |
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NCBI chr14:123,156,383...123,220,697
Ensembl chr14:123,156,383...123,221,447
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Stx4a |
syntaxin 4A (placental) |
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ISO |
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OMIM |
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NCBI chr 7:127,439,832...127,450,160
Ensembl chr 7:127,423,466...127,448,191
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Pkhd1l1 |
polycystic kidney and hepatic disease 1-like 1 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 |
ClinVar OMIM |
PMID:38459354 |
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NCBI chr15:44,320,792...44,464,772
Ensembl chr15:44,320,890...44,464,765
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Gas2 |
growth arrest specific 2 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 125 |
OMIM ClinVar |
PMID:33964205 |
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NCBI chr 7:51,511,560...51,644,753
Ensembl chr 7:51,511,763...51,644,723
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Gipc3 |
GIPC PDZ domain containing family, member 3 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 | ClinVar Annotator: match by term: GIPC3-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:23510777 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:32682410 PMID:32747562 PMID:32864763 More...
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NCBI chr10:81,171,096...81,179,452
Ensembl chr10:81,171,099...81,179,100
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Catsper2 |
cation channel, sperm associated 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 |
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NCBI chr 2:121,222,109...121,245,082
Ensembl chr 2:121,223,112...121,244,273
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Ckmt1 |
creatine kinase, mitochondrial 1, ubiquitous |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:121,188,257...121,194,218
Ensembl chr 2:121,188,195...121,194,218
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Frmd5 |
FERM domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:121,376,010...121,637,580
Ensembl chr 2:121,376,010...121,637,568
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Pdia3 |
protein disulfide isomerase associated 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:121,244,383...121,269,168
Ensembl chr 2:121,244,256...121,269,168
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Ppip5k1 |
diphosphoinositol pentakisphosphate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:121,141,038...121,186,138
Ensembl chr 2:121,141,042...121,185,877
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Strc |
stereocilin |
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ISO IAGP |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 16 | ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition CTD Direct Evidence: marker/mechanism OMIM:603720 |
OMIM ClinVar CTD MouseDO |
PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 PMID:24033266 PMID:24963352 PMID:25157971 PMID:25741868 PMID:26011646 PMID:26467025 PMID:26746617 PMID:26969326 PMID:27057829 PMID:29196752 PMID:29425068 PMID:30311386 PMID:31552524 PMID:32203226 PMID:32705992 PMID:32860223 PMID:35802133 PMID:36633841 More...
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NCBI chr 2:121,193,729...121,211,851
Ensembl chr 2:121,194,209...121,217,649
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Ush1c |
USH1 protein network component harmonin |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: Deafness, autosomal recessive 18 |
ClinVar |
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:17576681 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:23251578 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24875298 PMID:25333064 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27848944 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29490346 PMID:29625443 PMID:29739340 PMID:29907799 PMID:30096381 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30718709 PMID:31858762 PMID:32581362 PMID:32747562 PMID:33095980 PMID:33576794 PMID:33724713 PMID:34391192 PMID:34426522 PMID:38219857 More...
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NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927
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Ush1g |
USH1 protein network component sans |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867
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Ush1c |
USH1 protein network component harmonin |
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ISO IAGP IMP |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A | ClinVar Annotator: match by term: USH1C-related condition OMIM:602092 |
OMIM ClinVar MouseDO RGD |
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:17576681 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:23251578 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24875298 PMID:25333064 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27848944 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29490346 PMID:29625443 PMID:29739340 PMID:29907799 PMID:30096381 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30718709 PMID:31858762 PMID:32581362 PMID:32747562 PMID:33095980 PMID:33576794 PMID:33724713 PMID:34391192 PMID:34426522 PMID:38219857 PMID:14519688 More...
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RGD:8694458 |
NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927
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Ush1g |
USH1 protein network component sans |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 18A |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867
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Otog |
otogelin |
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ISO IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition OMIM:614945 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 PMID:24033266 PMID:24378291 PMID:25741868 PMID:26467025 PMID:28050010 PMID:28492532 PMID:29196752 PMID:29907799 PMID:30139988 PMID:30311386 PMID:31152317 PMID:31645975 PMID:31827275 PMID:32048449 PMID:33223529 PMID:35802133 PMID:36633841 More...
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NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858
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Cryl1 |
crystallin, lambda 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 |
ClinVar |
PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 PMID:15994881 PMID:17041943 PMID:18324688 PMID:20236118 PMID:27480936 PMID:28492532 More...
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NCBI chr14:57,512,491...57,635,940
Ensembl chr14:57,512,450...57,635,986
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Eef1akmt1 |
EEF1A alpha lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
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NCBI chr14:57,787,052...57,809,039
Ensembl chr14:57,787,054...57,809,069
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Ercc8 |
excision repaiross-complementing rodent repair deficiency, complementation group 8 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:19894250 PMID:25741868 PMID:29572252 PMID:30820731 PMID:30871974 PMID:31980658 More...
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NCBI chr13:108,295,246...108,337,738
Ensembl chr13:108,295,265...108,331,898
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Gja3 |
gap junction protein, alpha 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
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NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557
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Gjb2 |
gap junction protein, beta 2 |
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ISO IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 CTD Direct Evidence: marker/mechanism OMIM:220290 |
OMIM ClinVar CTD MouseDO |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9838096 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID: |